Canonical Allele Identifier: CA446897345
Gene: FCHSD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.141027055C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141647488C>T , CM000667.2:g.141647488C>T GRCh38
NC_000005.9:g.141027055C>T , CM000667.1:g.141027055C>T GRCh37
NC_000005.8:g.141007239C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000435817.7:c.738G>A MANE Select ENSP00000399259.2:p.Arg246=
ENST00000435817.6:c.738G>A ENSP00000399259.2:p.Arg246=
ENST00000522126.5:c.510G>A ENSP00000427796.1:p.Arg170=
ENST00000522386.1:n.344G>A
ENST00000522763.5:n.42G>A
ENST00000522783.5:c.732G>A ENSP00000428677.1:p.Arg244=
NM_033449.2:c.738G>A NP_258260.1:p.Arg246=
XM_005268524.3:c.732G>A XP_005268581.1:p.Arg244=
XM_006714803.2:c.609G>A XP_006714866.1:p.Arg203=
XM_011537698.1:c.738G>A XP_011536000.1:p.Arg246=
XM_011537699.1:c.738G>A XP_011536001.1:p.Arg246=
XM_011537700.1:c.738G>A XP_011536002.1:p.Arg246=
XM_011537701.1:c.738G>A XP_011536003.1:p.Arg246=
XR_427781.2:n.792G>A
XR_944338.1:n.798G>A
XR_944339.1:n.798G>A
XM_005268524.5:c.732G>A XP_005268581.1:p.Arg244=
XM_006714803.4:c.609G>A XP_006714866.1:p.Arg203=
XM_011537698.3:c.738G>A XP_011536000.1:p.Arg246=
XM_011537700.3:c.738G>A XP_011536002.1:p.Arg246=
XM_011537701.3:c.738G>A XP_011536003.1:p.Arg246=
XM_017010013.2:c.738G>A XP_016865502.1:p.Arg246=
XR_002956197.1:n.734G>A
XR_427781.4:n.734G>A
XR_944338.3:n.813G>A
XR_944339.3:n.813G>A
NM_033449.3:c.738G>A MANE Select NP_258260.1:p.Arg246=